Congenital/ Developmental Anomalies Affecting the Eye and Orbit

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In the human embryo, the eyes are formed by a delicate and complex process. Problems in this process can lead to congenital (present at birth) eye malformations. These conditions are relatively rare, occurring in approximately five per 10,000 live births. Children with these problems need the kind of specialized experience found among the pediatric ophthalmologists at Children's National Health System. Patients are regularly seen at Children's National for these conditions.

Children's National has a special Ophthalmic Genetics Clinic, headed by Brian P. Brooks, MD, PhD, one of the few physicians nationwide who is board certified both as a pediatric ophthalmologist and a clinical geneticist. Dr. Brooks conducts an active scientific research program on inherited eye diseases at the National Eye Institute, a division of the National Institutes of Health.
All members of the Pediatric Ophthalmology Team help assess, refer, and manage cases of congenital/developmental eye anomalies.

What are congenital/developmental anomalies affecting the eye and orbit?

The human eye forms through a complex program during embryonic development. Problems in this developmental process can lead to congenital eye malformations, such as anophthalmia (no eye), microphthalmia (small eye), coloboma (failure of the optic fissure to close), aniridia (absent or partial iris), and optic nerve hypoplasia (underdeveloped optic nerve).

What are the symptoms of congenital/developmental eye anomalies?
Symptoms include an abnormal-looking eye and reduced eye vision.

How are congenital/developmental eye anomalies diagnosed?
The problems are usually apparent in an eye examination. A patient may occasionally require further systemic tests, such as an MRI, CT scan or ultrasounds.

What is included in treatment of congenital/developmental eye anomalies?
Treatment focuses on maximizing visual potential with glasses and patching. Patients are treated by our ophthalmic surgeons, as necessary, for treatment of glaucoma, cataracts, or other associated anomalies. Genetic counseling and information access is also provided. At Children's National, treatment is almost entirely outpatient. The frequency of treatment can vary from once every month to once a year.

What is the long-term outlook for a child with congenital/developmental eye anomalies?
After initial treatment, families can expect to have a broader understanding of the eye disease, its possible genetic background, and possible related conditions. Parents will be made aware of the visual potential of the child, the possible need for special educational placement, and the long-term prognosis and/or progression of the disease. In some cases low vision aids may be necessary or helpful.

All members of the Pediatric Ophthalmology Team help assess, refer, and manage cases of congenital/developmental eye anomalies. Members of the Pediatric Oculoplastics Team evaluate and surgically treat malformations such as lid deformities, lid coloboma (absence of the lids), ptosis (drooping of the lids) and small orbits due to extremely small or "absent" eyeballs.